ClinVar

NM_000337.6(SGCD):c.-41A>T

Gene:

SGCD:sarcoglycan delta [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q33.3

Genomic location:

• Chr5: 156329536 (on Assembly GRCh38)
• Chr5: 155756546 (on Assembly GRCh37)

Preferred name:

NM_000337.6(SGCD):c.-41A>T

HGVS:

• NC_000005.10:g.156329536A>T
• NG_008693.2:g.464193A>T
• NM_000337.6:c.-41A>TMANE SELECT
• NM_001128209.2:c.-1+2304A>T
• NM_172244.3:c.-41A>T
• LRG_205:g.464193A>T
• NC_000005.9:g.155756546A>T
• NM_172244.2:c.-41A>T

This HGVS expression did not pass validation

Links:

dbSNP: rs369889635

NCBI 1000 Genomes Browser:

rs369889635

Molecular consequence:

• NM_000337.6:c.-41A>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_172244.3:c.-41A>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001128209.2:c.-1+2304A>T - intron variant - [Sequence Ontology: SO:0001627]

Observations:

1